RPE65 Chromosome 1
Retinoid isomerohydrolase RPE65
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What This Gene Does
The protein encoded by this gene is a component of the vitamin A visual cycle of the retina which supplies the 11-cis retinal chromophore of the photoreceptors opsin visual pigments. It is a member of the carotenoid cleavage oxygenase superfamily. All members of this superfamily are non-heme iron oxygenases with a seven-bladed propeller fold and oxidatively cleave carotenoid carbon:carbon double bonds. However, the protein encoded by this gene has acquired a divergent function that involves the concerted O-alkyl ester cleavage of its all-trans retinyl ester substrate and all-trans to 11-cis double bond isomerization of the retinyl moiety. As such, it performs the essential enzymatic isomerization step in the synthesis of 11-cis retinal. Mutations in this gene are associated with early-onset severe blinding disorders such as Leber congenital. [provided by RefSeq, Oct 2017]
Associated Conditions (26)
Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPE65-related recessive retinopathy
Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis
Retinal dystrophy
Retinitis pigmentosa
RPE65-related disorder
Cone-rod dystrophy
Autosomal recessive retinitis pigmentosa
Inborn genetic diseases
Abnormality of vision
Abnormal electroretinogram
Congenital blindness
Retinal degeneration
Abnormality of the eye
Autism
Global developmental delay
Rod-cone dystrophy
Nystagmus
+6 more conditions
Key Variants
RS1158240863
Conflicting classifications of pathogenicity
Retinitis pigmentosa 20, Leber congenital amaurosis 2, RPE65-related recessive retinopathy
Health Risk
RS121917744
Conflicting classifications of pathogenicity
Retinitis pigmentosa 20, Leber congenital amaurosis 2, Leber congenital amaurosis
Health Risk
RS150260489
Conflicting classifications of pathogenicity
Leber congenital amaurosis 2, Retinitis pigmentosa 20, Retinal dystrophy
Health Risk
RS1553153597
Conflicting classifications of pathogenicity
Leber congenital amaurosis 2, Retinitis pigmentosa 20, Leber congenital amaurosis 2
Health Risk
RS1645929674
Conflicting classifications of pathogenicity
Leber congenital amaurosis 2, Retinitis pigmentosa 20, Leber congenital amaurosis 2
Health Risk
RS1645945392
Conflicting classifications of pathogenicity
Leber congenital amaurosis 2, Retinal dystrophy, Leber congenital amaurosis 2
Health Risk
RS188493184
Conflicting classifications of pathogenicity
Leber congenital amaurosis 2, Retinitis pigmentosa 20, Retinitis pigmentosa
Health Risk
RS201379753
Conflicting classifications of pathogenicity
Leber congenital amaurosis 2, Retinitis pigmentosa 20, Retinitis pigmentosa
Health Risk
RS372620785
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Leber congenital amaurosis 2, Retinitis pigmentosa 20
Health Risk
RS547374432
Conflicting classifications of pathogenicity
Leber congenital amaurosis 2, Retinitis pigmentosa 20, Retinitis pigmentosa
Health Risk
RS548537552
Conflicting classifications of pathogenicity
Retinitis pigmentosa 20, Leber congenital amaurosis 2, Retinitis pigmentosa 20
Health Risk
RS747122876
Conflicting classifications of pathogenicity
Leber congenital amaurosis 2, Retinitis pigmentosa, Retinitis pigmentosa 20
Health Risk
All Variants (258)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1645928251 | Health Risk | Likely pathogenic | Leber congenital amaurosis 2, Leber congenital amaurosis 2 |
| RS1645945363 | Health Risk | Likely pathogenic | Leber congenital amaurosis, Retinitis pigmentosa 20, Leber congenital amaurosis 2 |
| RS1645945582 | Health Risk | Likely pathogenic | Leber congenital amaurosis 2, Leber congenital amaurosis 2 |
| RS1645945643 | Health Risk | Likely pathogenic | Leber congenital amaurosis 2, Leber congenital amaurosis 2 |
| RS1645959896 | Health Risk | Likely pathogenic | Leber congenital amaurosis 2, Retinitis pigmentosa 20, RPE65-related recessive retinopathy |
| RS192907397 | Health Risk | Likely pathogenic | Leber congenital amaurosis, Retinitis pigmentosa 20, Leber congenital amaurosis 2 |
| RS2100804954 | Health Risk | Likely pathogenic | Leber congenital amaurosis 2, Retinitis pigmentosa 20, RPE65-related recessive retinopathy |
| RS2100806802 | Health Risk | Likely pathogenic | RPE65-related recessive retinopathy, RPE65-related recessive retinopathy |
| RS2100806889 | Health Risk | Likely pathogenic | Leber congenital amaurosis 2, Retinitis pigmentosa 20, Leber congenital amaurosis |
| RS2100807345 | Health Risk | Likely pathogenic | — |
| RS2100821857 | Health Risk | Likely pathogenic | Leber congenital amaurosis 2, Retinitis pigmentosa 20, Retinitis pigmentosa 87 with choroidal involvement |
| RS2100827985 | Health Risk | Likely pathogenic | Leber congenital amaurosis 2, Retinitis pigmentosa 20, Leber congenital amaurosis |
| RS2100827990 | Health Risk | Likely pathogenic | Leber congenital amaurosis 2, Retinitis pigmentosa 20, Leber congenital amaurosis 2 |
| RS2100831413 | Health Risk | Likely pathogenic | Leber congenital amaurosis 2, RPE65-related recessive retinopathy, Leber congenital amaurosis |
| RS2100834154 | Health Risk | Likely pathogenic | Leber congenital amaurosis 2, Leber congenital amaurosis 2 |
| RS2523401947 | Health Risk | Likely pathogenic | Leber congenital amaurosis 2, Leber congenital amaurosis 2 |
| RS2523402677 | Health Risk | Likely pathogenic | Retinitis pigmentosa 20, Leber congenital amaurosis 2, Leber congenital amaurosis |
| RS2523403024 | Health Risk | Likely pathogenic | RPE65-related recessive retinopathy, RPE65-related recessive retinopathy |
| RS2523403039 | Health Risk | Likely pathogenic | Leber congenital amaurosis 2, Retinitis pigmentosa 20, Leber congenital amaurosis |
| RS2523404458 | Health Risk | Likely pathogenic | Leber congenital amaurosis 2, Leber congenital amaurosis 2 |
| RS2523423097 | Health Risk | Likely pathogenic | Leber congenital amaurosis 2, Leber congenital amaurosis 2 |
| RS2523425771 | Health Risk | Likely pathogenic | Leber congenital amaurosis 2, Leber congenital amaurosis 2 |
| RS2523426253 | Health Risk | Likely pathogenic | Leber congenital amaurosis 2, Leber congenital amaurosis 2 |
| RS2523432498 | Health Risk | Likely pathogenic | Leber congenital amaurosis 2, Leber congenital amaurosis 2 |
| RS2523444526 | Health Risk | Likely pathogenic | RPE65-related recessive retinopathy, RPE65-related recessive retinopathy |
| RS2523452284 | Health Risk | Likely pathogenic | Leber congenital amaurosis 2, Retinitis pigmentosa 20, Leber congenital amaurosis 2 |
| RS2523458090 | Health Risk | Likely pathogenic | Leber congenital amaurosis 2, Leber congenital amaurosis 2 |
| RS281865285 | Health Risk | Likely pathogenic | Retinitis pigmentosa 20, Leber congenital amaurosis 2, Leber congenital amaurosis |
| RS281865289 | Health Risk | Likely pathogenic | Leber congenital amaurosis 2, RPE65-related recessive retinopathy, Leber congenital amaurosis |
| RS34627040 | Health Risk | Likely pathogenic | Retinitis pigmentosa 20, Leber congenital amaurosis 2, Leber congenital amaurosis |
| RS562037932 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinitis pigmentosa 20, Leber congenital amaurosis 2 |
| RS61751277 | Health Risk | Likely pathogenic | Leber congenital amaurosis 2, Retinitis pigmentosa 20, Leber congenital amaurosis |
| RS61752869 | Health Risk | Likely pathogenic | Retinitis pigmentosa 20, Leber congenital amaurosis 2, RPE65-related recessive retinopathy |
| RS61752873 | Health Risk | Likely pathogenic | Retinitis pigmentosa 20, Leber congenital amaurosis 2, Leber congenital amaurosis |
| RS61752874 | Health Risk | Likely pathogenic | — |
| RS61752875 | Health Risk | Likely pathogenic | Leber congenital amaurosis 2, RPE65-related recessive retinopathy, Leber congenital amaurosis 2 |
| RS61752876 | Health Risk | Likely pathogenic | Retinitis pigmentosa 20, Leber congenital amaurosis 2, Leber congenital amaurosis 2 |
| RS61752880 | Health Risk | Likely pathogenic | Retinitis pigmentosa 20, Leber congenital amaurosis 2, RPE65-related recessive retinopathy |
| RS61752882 | Health Risk | Likely pathogenic | Leber congenital amaurosis 2, RPE65-related recessive retinopathy, Leber congenital amaurosis 2 |
| RS61752908 | Health Risk | Likely pathogenic | Retinitis pigmentosa 20, Leber congenital amaurosis 2, RPE65-related recessive retinopathy |
| RS62636299 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinitis pigmentosa 20, Leber congenital amaurosis 2 |
| RS62636300 | Health Risk | Likely pathogenic | Leber congenital amaurosis 2, Retinitis pigmentosa 20, Leber congenital amaurosis |
| RS62637002 | Health Risk | Likely pathogenic | — |
| RS62637004 | Health Risk | Likely pathogenic | Retinitis pigmentosa 20, Leber congenital amaurosis 2, Retinitis pigmentosa 87 with choroidal involvement |
| RS62637007 | Health Risk | Likely pathogenic | Leber congenital amaurosis 2, RPE65-related recessive retinopathy, Retinitis pigmentosa 20 |
| RS62646883 | Health Risk | Likely pathogenic | Retinitis pigmentosa 20, Leber congenital amaurosis 2, RPE65-related recessive retinopathy |
| RS62653012 | Health Risk | Likely pathogenic | RPE65-related recessive retinopathy, RPE65-related recessive retinopathy |
| RS749242996 | Health Risk | Likely pathogenic | Retinitis pigmentosa 20, Leber congenital amaurosis 2, RPE65-related recessive retinopathy |
| RS750724065 | Health Risk | Likely pathogenic | Leber congenital amaurosis 2, Retinitis pigmentosa 20, Leber congenital amaurosis |
| RS774309607 | Health Risk | Likely pathogenic | Leber congenital amaurosis 2, Retinitis pigmentosa 20, RPE65-related recessive retinopathy |